分類不能型免疫不全症  [in Japanese] Common variable immunodeficiency  [in Japanese]

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Author(s)

    • 高橋 尚美 TAKAHASHI Naomi
    • 東京医科歯科大学大学院 発生発達病態学分野 Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University, Graduate School
    • 森尾 友宏 MORIO Tomohiro
    • 東京医科歯科大学大学院 発生発達病態学分野 Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University, Graduate School

Abstract

  分類不能型免疫不全症は血清イムノグロブリンの低下と感染に対する感受性の増加を特徴とする原発性免疫不全症である.患者は様々な臨床症状を呈し,細胞レベルおよび免疫学的においても多様な欠損があり,自己免疫疾患を合併しやすく悪性腫瘍への感受性も高い.最近CVIDの原因となる4つの遺伝子の欠損(ICOS, TACI, BAFF-R, CD19)が同定され,CVIDにおける遺伝的基盤の多様性を実証している.これら遺伝子の異常はそれぞれ異なる段階でB細胞の成熟,機能および分化を障害する.原因遺伝子の解明にも関わらず,それが免疫不全に結びつく分子メカニズムは未だによく理解されていない.本稿では,CVIDの分子基盤について概説し,分子の欠損が自己免疫にどのように結びつくかについての知見を紹介する.<br>

  Common variable immunodeficiency (CVID) is a primary immunodeficiency that is characterized by low level of serum immunoglobulins and an increased susceptibility to infections. The patients show a variety of clinical, cellular, and immunological defects, may develop autoimmune disease, and are susceptible to malignancy. The recent identification of four genetic defects that result in the CVID phenotype demonstrates that the genetic basis of CVID is highly variable. The responsible gene products include, ICOS, TACI, BAFF-R, CD19. Insufficiency of each molecule disrupts B cell maturation, function and differentiation at a different stage. Despite the elucidation of responsible genes, the molecular mechanisms leading to the immune defects are still yet to be understood. In this paper, we overview the molecular basis of CVID, and will provide some data on how the defect leads to autoimmunity.<br>

Journal

  • Japanese Journal of Clinical Immunology

    Japanese Journal of Clinical Immunology 31(1), 9-16, 2008-02-28

    The Japan Society for Clinical Immunology

References:  32

Keywords

Codes

  • NII Article ID (NAID)
    10021242183
  • NII NACSIS-CAT ID (NCID)
    AN00357971
  • Text Lang
    JPN
  • Article Type
    REV
  • ISSN
    09114300
  • Data Source
    CJP  J-STAGE 
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